Usher Syndrome, Type 1F
| Disorder | |
|---|---|
| OMIM #: | #602083 (Click to access OMIM database) |
| Disorder: | Usher Syndrome, Type 1F |
| Also known as: | USH1F |
| Clinical | |
| Phenotype: | sensorineural hearing impairment, retinal dystrophy, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | PCDH15, E10 region |
| Base Change: | del.T, at nucleotide 1471 |
| Amino Acid Change: | Frame shift |
| Last updated: | 2022-11-12 |
| References |
|---|
| Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, and Smith RJ. (2001) Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 10(16): 1709-1178. PubMed ID: 11487575 |
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